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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2012 | 1 |
2015 | 1 |
2016 | 1 |
2017 | 2 |
2024 | 1 |
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6 results
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Page 1
The role of copy number variants in the genetic architecture of common familial epilepsies.
Epilepsia. 2024 Mar;65(3):792-804. doi: 10.1111/epi.17860. Epub 2024 Jan 20.
Epilepsia. 2024.
PMID: 38101940
Epi4K: gene discovery in 4,000 genomes.
Epi4K Consortium.
Epi4K Consortium.
Epilepsia. 2012 Aug;53(8):1457-67. doi: 10.1111/j.1528-1167.2012.03511.x. Epub 2012 May 29.
Epilepsia. 2012.
PMID: 22642626
Free PMC article.
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Annotating pathogenic non-coding variants in genic regions.
Gelfman S, Wang Q, McSweeney KM, Ren Z, La Carpia F, Halvorsen M, Schoch K, Ratzon F, Heinzen EL, Boland MJ, Petrovski S, Goldstein DB.
Gelfman S, et al.
Nat Commun. 2017 Aug 9;8(1):236. doi: 10.1038/s41467-017-00141-2.
Nat Commun. 2017.
PMID: 28794409
Free PMC article.
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Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
Epilepsy Phenome/Genome Project Epi4K Consortium.
Epilepsy Phenome/Genome Project Epi4K Consortium.
Ann Neurol. 2015 Aug;78(2):323-8. doi: 10.1002/ana.24457. Epub 2015 Jul 1.
Ann Neurol. 2015.
PMID: 26068938
Free PMC article.
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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Epi4K Consortium.
Epi4K Consortium.
Am J Hum Genet. 2016 Aug 4;99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28.
Am J Hum Genet. 2016.
PMID: 27476654
Free PMC article.
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New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.
Roohi J, Crowe J, Loredan D, Anyane-Yeboa K, Mansukhani MM, Omesi L, Levine J, Revah Politi A, Zha S.
Roohi J, et al.
J Hum Genet. 2017 Apr;62(5):581-584. doi: 10.1038/jhg.2017.6. Epub 2017 Jan 26.
J Hum Genet. 2017.
PMID: 28123174
Free PMC article.
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